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Details
Link-It Detail - Disease - BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
Debug Stats
  • ### Total Build Time: 14 ms 11.518 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 382 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=11 ms Completed: 11 ms rowSize= 8.565 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 1.333 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.176 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE C1843512
Relationships (20)

Relation Types:
diso_​to_​diso : 20


Relationships:
manifestation_​of : 18
related_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg A subset of patients may have congenital abnormalities of the ocular anterior segment C2675657
DISO_to_DISOmanifestation_ofimg Amblyopia (reported in 1 family) C2675655
DISO_to_DISOmanifestation_ofimg Axenfeld-Rieger anomalies (reported in 1 family) C2675652
DISO_to_DISOrelated_toimg BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY C2675650
DISO_to_DISOmanifestation_ofimg BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE C1843512
DISO_to_DISOmanifestation_ofimg Blurred vision, episodic C1843520
DISO_to_DISOmanifestation_ofimg Caused by mutation in the collagen IV, alpha-1 polypeptide gene (COL4A1, 120130.0003). C1843521
DISO_to_DISOmanifestation_ofimg Congenital cataracts (reported in 1 family) C2675653
DISO_to_DISOmanifestation_ofimg Deep hypointensities (MRI, T2) suggestive of past microbleeds C1843515
DISO_to_DISOmanifestation_ofimg Dilated perivascular spaces C1843516
DISO_to_DISOmanifestation_ofimg Hypopigmentation of the fundus C1843518
DISO_to_DISOmanifestation_ofimg Iris hypoplasia (reported in 1 family) C2675656
DISO_to_DISOrelated_toimg LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY C2675651
DISO_to_DISOmanifestation_ofimg Migraine with Aura C0154723
DISO_to_DISOmanifestation_ofimg Posterior leukoencephalopathy C1843513
DISO_to_DISOmanifestation_ofimg Retinal arteriolar tortuosity C1843517
DISO_to_DISOmanifestation_ofimg Retinal detachment (reported in 1 family) C2675654
DISO_to_DISOmanifestation_ofimg Scotomas, episodic C1843519
DISO_to_DISOmanifestation_ofimg Variable age of onset (range 4 months to 45 years) C1843522
DISO_to_DISOmanifestation_ofimg White matter hyperintensities (MRI, T2 images) suggestive of old infarcts C1843514
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCOL4A11282collagen, type IV, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C1843512
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1843512BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE0self